Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma

Julia C. Thierauf, Alex A. Farahani, B. Iciar Indave, Adam Z. Bard, Valerie A. White, Cameron R. Smith, Hetal Marble, Martin D. Hyrcza, John K.C. Chan, Justin Bishop, Qiuying Shi, Kim Ely, Abbas Agaimy, Maria Martinez‐lage, Vania Nose, Miguel Rivera, Valentina Nardi, Dora Dias‐santagata, Salil Garg, Peter SadowLong P. Le, William Faquin, Lauren L. Ritterhouse, Ian A. Cree, A. John Iafrate, Jochen K. Lennerz

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an objective confirmation of the MEC diagnosis, for example, when distinction from the more aggressive adenosquamous carcinoma (ASC) is not straightforward. To assess the diagnostic relevance of MAML2, we examined our 5‐year experience in prospective testing of 8106 solid tumors using RNA‐seq panel testing in combinations with a two‐round Delphi‐based scenario survey. The prevalence of MAML2+ across all tumors was 0.28% (n = 23/8106) and the majority of MAML2+ cases were found in head and neck tumors (78.3%), where the overall prevalence was 5.9% (n = 18/307). The sensitivity of MAML2 for MEC was 60% and most cases (80%) were submitted for diagnostic confirmation; in 24% of cases, the MAML2 results changed the working diagnosis. An independent survey of 15 experts showed relative importance indexes of 0.8 and 0.65 for “confirmatory MAML2 testing” in suspected MEC and ASC, respectively. Real‐world evidence confirmed that the added value of MAML2 is a composite of an imperfect confirmation test for MEC and a highly specific exclusion tool for the diagnosis of ASC. Real‐world evidence can help move a rare molecular‐genetic biomarker from an emerging tool to the clinic.

Original languageEnglish (US)
Article number4322
JournalInternational journal of molecular sciences
Volume23
Issue number8
DOIs
StatePublished - Apr 1 2022

Keywords

  • adenosquamous
  • biomarker
  • CRTC
  • fusion gene
  • molecular testing
  • mucoepidermoid
  • next‐generation sequencing

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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